OIT3[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 2330300	NM_152635.3(OIT3):c.4C>T (p.Pro2Ser)	OIT3 (P2S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204176	NM_152635.3(OIT3):c.7C>T (p.Pro3Ser)	OIT3 (P3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363396	NM_152635.3(OIT3):c.49G>A (p.Val17Met)	OIT3 (V17M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368793	NM_152635.3(OIT3):c.58G>A (p.Val20Met)	OIT3 (V20M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2388755	NM_152635.3(OIT3):c.59T>C (p.Val20Ala)	OIT3 (V20A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204177	NM_152635.3(OIT3):c.85A>T (p.Ile29Phe)	OIT3 (I29F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396907	NM_152635.3(OIT3):c.159C>G (p.Asn53Lys)	OIT3 (N53K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640579	NM_152635.3(OIT3):c.198G>A (p.Ala66=)	OIT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3204171	NM_152635.3(OIT3):c.249C>G (p.His83Gln)	OIT3 (H83Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494823	NM_152635.3(OIT3):c.262C>A (p.Leu88Ile)	OIT3 (L88I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547218	NM_152635.3(OIT3):c.304C>T (p.Arg102Cys)	OIT3 (R102C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557541	NM_152635.3(OIT3):c.326A>G (p.Asn109Ser)	OIT3 (N109S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302245	NM_152635.3(OIT3):c.353C>T (p.Thr118Met)	OIT3 (T118M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231910	NM_152635.3(OIT3):c.398T>G (p.Leu133Arg)	OIT3 (L133R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410125	NM_152635.3(OIT3):c.412G>A (p.Val138Ile)	OIT3 (V138I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460480	NM_152635.3(OIT3):c.457G>A (p.Glu153Lys)	OIT3 (E153K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302247	NM_152635.3(OIT3):c.459G>C (p.Glu153Asp)	OIT3 (E153D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369280	NM_152635.3(OIT3):c.460G>A (p.Asp154Asn)	OIT3 (D154N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333241	NM_152635.3(OIT3):c.494G>A (p.Cys165Tyr)	OIT3 (C165Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640580	NM_152635.3(OIT3):c.501C>T (p.Cys167=)	OIT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2233606	NM_152635.3(OIT3):c.502G>A (p.Ala168Thr)	OIT3 (A168T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204172	NM_152635.3(OIT3):c.613C>T (p.Arg205Cys)	OIT3 (R205C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347116	NM_152635.3(OIT3):c.635G>A (p.Arg212His)	OIT3 (R212H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467227	NM_152635.3(OIT3):c.683A>G (p.His228Arg)	OIT3 (H228R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302244	NM_152635.3(OIT3):c.697G>C (p.Gly233Arg)	OIT3 (G233R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372754	NM_152635.3(OIT3):c.719G>C (p.Gly240Ala)	OIT3 (G240A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204173	NM_152635.3(OIT3):c.739T>C (p.Cys247Arg)	OIT3 (C247R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204174	NM_152635.3(OIT3):c.751C>T (p.Arg251Trp)	OIT3 (R251W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599184	NM_152635.3(OIT3):c.752G>A (p.Arg251Gln)	OIT3 (R251Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204175	NM_152635.3(OIT3):c.777C>A (p.Asn259Lys)	OIT3 (N259K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333745	NM_152635.3(OIT3):c.799T>G (p.Leu267Val)	OIT3 (L267V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385256	NM_152635.3(OIT3):c.827A>C (p.Asn276Thr)	OIT3 (N276T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542016	NM_152635.3(OIT3):c.902C>T (p.Thr301Ile)	OIT3 (T301I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204167	NM_152635.3(OIT3):c.1021G>A (p.Gly341Arg)	OIT3 (G341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212936	NM_152635.3(OIT3):c.1048C>G (p.Leu350Val)	OIT3 (L350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552492	NM_152635.3(OIT3):c.1052T>C (p.Leu351Pro)	OIT3 (L351P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460512	NM_152635.3(OIT3):c.1105G>A (p.Val369Ile)	OIT3 (V369I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302246	NM_152635.3(OIT3):c.1113C>A (p.Asn371Lys)	OIT3 (N371K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513848	NM_152635.3(OIT3):c.1339G>T (p.Val447Phe)	OIT3 (V447F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204168	NM_152635.3(OIT3):c.1349A>T (p.Tyr450Phe)	OIT3 (Y450F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204169	NM_152635.3(OIT3):c.1439T>C (p.Val480Ala)	OIT3 (V480A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456548	NM_152635.3(OIT3):c.1516C>T (p.Arg506Cys)	OIT3 (R506C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204170	NM_152635.3(OIT3):c.1517G>A (p.Arg506His)	OIT3 (R506H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 219345	NM_152635.3(OIT3):c.1598C>T (p.Thr533Met)	OIT3 (T533M)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2346280	NM_152635.3(OIT3):c.1619G>A (p.Arg540His)	OIT3 (R540H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063148	GRCh37/hg19 10q22.1-22.2(chr10:74472028-75019111)x3	CFAP70, DNAJC9 +8 more	Copy number gain	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527591	GRCh37/hg19 10q22.1-22.2(chr10:74472028-75007588)	DNAJC9, ECD +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1341265	GRCh37/hg19 10q22.1(chr10:74573522-74852531)x3	MCU, OIT3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 63